Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030305 (pancreatitis)
 16,014 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystic fibrosis is rare in the Asian population, and is often associated with consanguinity and rare genotypes. We report on a 23-year-old Asian man from a consanguineous pedigree referred to the regional cystic fibrosis unit after a diagnosis of congenital bilateral absence of the vas deferens during investigations for infertility. A detailed history revealed several previous episodes of acute pancreatitis. Full diagnostic appraisal showed homozygosity for a novel cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation, but normal sweat test and nasal potential difference studies. An endoscopic retrograde cholangiopancreatogram (ERCP) showed chronic pancreatitis with bulky side branches. The vas deferens and the pancreas appeared exquisitely sensitive to mild CFTR dysfunction. Patients with cystic fibrosis and unexplained upper abdominal pain should be screened for pancreatitis, and consideration should be given to screening patients with idiopathic pancreatitis for mutations in the CFTR gene.
 ...
PMID:Cystic fibrosis presenting as acute pancreatitis and obstructive azoospermia in a young adult male with a novel mutation in the CFTR gene. 1242 49

Alcoholic chronic pancreatitis and obstructive chronic pancreatitis are the most frequent and the better characterized types of pancreatitis. Recent advances in biology and genetics have brought new insights into the understanding of rare forms of chronic pancreatitis such as tropical chronic pancreatitis, hereditary chronic pancreatitis and chronic pancreatitis in cystic fibrosis. Some other rare forms of chronic pancreatitis have been identified: eosinophilic chronic pancreatitis, chronic pancreatitis after radiotherapy or during hypercalcemia, minimal change chronic pancreatitis and chronic pancreatitis associated with gut diseases or connectivitis. Recently, a particular form of non alcoholic chronic pancreatitis with duct destruction has been described often presenting as a pancreatic mass, leading in some cases to surgical resection of the pancreas. New insights into the understanding of chronic pancreatitis lead to new physiopathological concepts, and many arguments suggest that combined factors may lead to chronic inflammatory lesions of the pancreas.
 ...
PMID:[Uncommon types of chronic pancreatitis]. 1248 56

Mutations of three major genes are associated with an increased risk of acute and chronic pancreatitis: the cationic trypsinogen (PRSS1) gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and the pancreatic secretory trypsin inhibitor (PSTI) or serine protease inhibitor, Kazal type 1 (SPINK1) gene. Some autosomal dominant forms of hereditary pancreatitis are associated with mutations of the PRSS1 gene, which can be readily identified by genetic testing. Mutations of the CFTR gene can lead either to cystic fibrosis or to idiopathic chronic pancreatitis, and to a variety of cystic fibrosis-associated disorders, including congenital bilateral absence of the vas deferens and sinusitis. These mutations, as with those of the SPINK1 (or PSTI) gene, are prevalent in North America; thus, the presence of such a mutation in an asymptomatic person does not confer a high risk of developing pancreatitis. Combinations of mutations of the PRSS1 and SPINK1 genes lead to more severe disease, as indicated by an earlier onset of symptoms, which suggests that SPINK1 is a disease modifier. The major fear expressed by potential candidates for genetic testing is that the results could lead to insurance discrimination. Studies of the positive predictive value of genetic tests are hampered by recruitment bias and lack of knowledge of family history of pancreatitis. Genetic testing is most useful for persons for whom family members have already been found to exhibit a particular pancreatitis-associated mutation. In the future, increased knowledge of the myriad genetic causes of pancreatitis, as well as advances in the diagnosis and treatment of early chronic pancreatitis, should enhance the utility of genetic testing.
 ...
PMID:Motion--genetic testing is useful in the diagnosis of nonhereditary pancreatic conditions: arguments for the motion. 1256 Aug 56

Mutations of two genes, the cystic fibrosis transmembrane conductance regulator gene (CFTR) and the pancreatic secretory trypsin inhibitor gene (PSTI), are associated with an increase in the risk of idiopathic chronic pancreatitis. Persons who have mutations of both CFTR alleles (one severely and one mildly affected) are especially susceptible to this disease. Because these compound heterozygotes have sufficient residual CFTR function, they do not develop cystic fibrosis lung disease. One PSTI mutation, N34S, independently increases the risk of pancreatitis. Thus, the risk of pancreatitis is greatest among individuals who are CFTR compound heterozygotes and who also have the PSTI mutation. Nonetheless, most people with CFTR and PSTI mutations do not develop pancreatitis. This fact indicates that environmental influences and gene-gene interactions also affect pancreatitis risk. Although CFTR and PSTI genetic testing can identify persons at an increased risk of pancreatitis, there are several reasons why the routine screening of individuals with nonhereditary pancreatitis is not recommended at this time: most disease-associated mutations are not detected by readily available techniques, genetic counselling guidelines do not exist, most patients with mutations do not develop pancreatitis and the results of testing do not affect the clinical management of pancreatitis.
 ...
PMID:Motion--genetic testing is useful in the diagnosis of nonhereditary pancreatic conditions: arguments against the motion. 1256 Aug 55

Cystic fibrosis (CF) is caused by mutation in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. CF is characterised by chronic lung infections, pancreas insufficiency and, in males, congenital bilateral absence of the vas deferens (CBAVD). Furthermore, mutations in the CFTR are associated with several isolated, CF-related symptoms such as chronic lung diseases, CBAVD idiopathic pancreatitis and asthma. These patients have a higher frequency of CFTR mutations than unaffected individuals. The mutations found are not typical for the CF patients and are classified as mild mutations. One of these mutations (IVS8-5T) is frequently found in patients with the CF-related diseases, and in particular in patients with CBAVD. When a CFTR mutation is identified, genetic counselling and a mutation analysis should be offered to the relevant family members.
 ...
PMID:[Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes]. 1266 15

The renin-angiotensin system (RAS) is classically characterized as a circulating hormonal system primarily through the production of the physiologically active product angiotensin II (Ang II) that plays a crucial role in the regulation of blood pressure, fluid and electrolyte homeostasis. In addition to this circulating RAS, numerous tissues and organs have been recently demonstrated to exhibit their own RAS products and activities. Such an intrinsic RAS can modulate the specific local functions of their respective tissues and organs, frequently in a paracrine and autocrine manner. Recent findings from our laboratories and others have made a significant contribution on the expression, localization, regulation, and potential role of a local RAS in the pancreas. Although, it is quite intriguing that components of the local pancreatic RAS are responsive to various physiological and pathophysiological conditions, the crucial role of this system in regulating the exocrine and endocrine functions and ultimately the clinical relevance to pancreatic disease is still largely equivocal. Of particular interest in this context are the actions of pancreatic RAS on the growth, anti-proliferation and free radical generation in the pancreas. The aims of the current article focus on the emerging data on the local pancreatic RAS; its involvement in exocrine acinar and endocrine islet aspects, and the clinical significance in the pancreas are particularly addressed. The target for the local pancreatic RAS may provide a new insight into future management of various clinical conditions including islet transplants, diabetes mellitus, pancreatic cancer, pancreatitis and cystic fibrosis.
 ...
PMID:A local pancreatic renin-angiotensin system: endocrine and exocrine roles. 1267 70

A 12-year-old girl got abdominal pain three weeks after having received the second vaccination against MMR. MRCP showed dilatation of ductus choledochus and edema of caput pancreaticus. No stone was to be seen and the P-calcium level was normal. Hepatitis A virus, Ebstein-Barr virus, cytomegalovirus, enterovirus, serum col hemaggutinins, Yersinia and cystic fibrosis were all negative. Pancreatitis is seen with endemic parotitis and we suggest that MMR vaccination may have a causal connection with the above case.
 ...
PMID:[Acute pancreatitis associated with MMR vaccination]. 1283 Jul 60

Cystic fibrosis is a common autosomal recessive disorder that primarily affects the epithelial cells in the intestine, respiratory system, pancreas, gall bladder and sweat glands. Over one thousand mutations have currently been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that are associated with CF disease. There have been many studies on the correlation of the CFTR genotype and CF disease phenotype; however, this relationship is still not well understood. A connection between CFTR genotype and disease manifested in the pancreas has been well described, but pulmonary disease appears to be highly variable even between individuals with the same genotype. This review describes the current classification of CFTR mutation classes and resulting CF disease phenotypes. Complex disease alleles and modifier genes are discussed along with alternative disorders, such as disseminated bronchiectasis and pancreatitis, which are also thought to result from CFTR mutations.
 ...
PMID:The phenotypic consequences of CFTR mutations. 1294 Sep 20

The generalized exocrinopathy cystic fibrosis (CF) is caused by molecular lesions in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The basic defect of this autosomal-recessive disorder manifests in decreased permeability for chloride ions across the apical epithelial membrane. Of the more than 1,000 known CFTR mutations the most frequent mutation F508del occurs on about 70% of North- and Mideuropean CF chromosomes. CFTR mutations are also causatively involved in male infertility, pancreatitis and several airway diseases like disseminated bronchiectasis. The differential diagnosis between CF, other CFTR-opathies and diseases of unrelated etiology can be achieved by the assessment of clinical symptoms, CFTR mutation analysis and electrophysiological bioassays (sweat test, nasal potential difference, intestinal current measurements).
 ...
PMID:[Molecular genetics principles in cystic fibrosis. An example of genetic illness in pneumology]. 1456 84

Patients with normal or borderline sweat tests present a diagnostic challenge. In spite of the availability of genetic analysis and measurement of nasal potential difference, there is still uncertainty in diagnosing cystic fibrosis in some patients. CA 19-9 is a tumor-associated antigen whose levels were previously found to be elevated in some cystic fibrosis patients. We investigated whether serum CA 19-9 levels can contribute to establishing the diagnosis of cystic fibrosis in patients with a borderline sweat test, and evaluated the influence of different clinical variables on CA 19-9 levels. Serum CA 19-9 levels were measured in 82 cystic fibrosis patients grouped according to their genotype and in 38 healthy individuals. Group A included 50 patients who carried two mutations previously found to be associated with a pathological sweat test and pancreatic insufficiency (DeltaF508, W1282X, G542X, N1303K, and S549R). Group B included 13 compound heterozygote cystic fibrosis patients who carried one mutation known to cause mild disease with a borderline or normal sweat test and pancreatic sufficiency (3849+10kb C-->T, 5T). Group C included 38 normal controls. Nineteen cystic fibrosis patients carried at least one unidentified mutation. An association between CA 19-9 levels and age, pulmonary function, pancreatic status, sweat chloride, previous pancreatitis, serum lipase, meconium ileus, distal intestinal obstruction, liver disease, and diabetes was investigated. The distribution of CA 19-9 levels was significantly different between the three groups ( p<0.01); high CA 19-9 levels were found in 60% (30/50) of group Apatients and in 46.6% (6/13) of group B patients, but in only 5.2% (2/38) of the controls. CA 19-9 levels were inversely related to forced expiratory volume in 1 s, while no association was found with the other clinical parameters examined. Our findings suggest that the serum CA 19-9 in cystic fibrosis patients originates in the respiratory system, and has a useful ancillary role, particularly when diagnostic uncertainty exists. Hence, the diagnosis of cystic fibrosis should be considered in patients with borderline sweat tests and high CA 19-9 levels, but normal levels do not exclude cystic fibrosis.
 ...
PMID:Serum CA 19-9 levels as a diagnostic marker in cystic fibrosis patients with borderline sweat tests. 1459 87


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>